ABCMdb

PMID: 10612508

Zhang K, Garibaldi DC, Kniazeva M, Albini T, Chiang MF, Kerrigan M, Sunness JS, Han M, Allikmets R
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
Am J Ophthalmol. 1999 Dec;128(6):720-4., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCA4 p.Gly863Ala ABCA4 p.Cys54Tyr A previously described G-to-C transversion of nucleotide 2588, predicting a Gly863Ala amino acid substitution, and a novel G-to-A transition of nucleotide 161, resulting in a Cys54Tyr substitution, were identified. Login to comment 70 ABCA4 p.Gly863Ala ABCA4 p.Cys54Tyr A G-to-C transversion of nucleotide 2588, resulting in a Gly863Ala amino acid substitution, and a G-to-A transition of nucleotide 161, which caused a Cys54Tyr substitution (Figure 4), were identified. Login to comment 71 ABCA4 p.Cys54Tyr The first mutation has previously been described as a frequent event in Caucasian families segregating Stargardt disease.3 The Cys54Tyr represents a novel, rare mutation in the ABCR gene and was not found in 211 age-matched control subjects with normal ocular examinations. Login to comment 79 ABCA4 p.Cys54Tyr Mutation detection, performed by direct sequencing of polymerase chain reaction products, shows a G-to-A transition of nucleotide 161, which results in a Cys54Tyr substitution in the four affected patients in our cohort. Login to comment 82 ABCA4 p.Gly863Ala ABCA4 p.Cys54Tyr The Gly863Ala amino acid substitution in exon 18 of the ABCR gene represents a frequent mutation in families of Caucasian origin with Stargardt disease.3 The second mutation, a Cys54Tyr substitution, represents a novel mutation in the ABCR gene. Login to comment